Source: CLINVAR ×
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		26 35 1 8.8E-03 1 2.2E-03
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		26 0 1 8.8E-03 0 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		26 25 1 8.8E-03 1 2.3E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		26 0 1 8.8E-03 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 0 1 8.8E-03 0 0
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		25 28 1 8.9E-03 1 2.2E-03
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		25 0 1 8.9E-03 0 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 0 1 9.1E-03 0 0
CUI: C2673410
Disease: Small midface
Small midface 		23 0 1 9.1E-03 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		21 30 1 9.3E-03 1 2.2E-03
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 0 1 9.3E-03 0 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		20 0 1 9.3E-03 0 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		20 0 1 9.3E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 579 4 9.5E-03 3 3.0E-03
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		18 105 1 9.5E-03 3 5.7E-03
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		18 0 1 9.5E-03 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		17 0 1 9.6E-03 0 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		17 0 1 9.6E-03 0 0
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		17 0 1 9.6E-03 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		17 0 1 9.6E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 1 9.7E-03 0 0
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		16 0 1 9.7E-03 0 0
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		16 0 1 9.7E-03 0 0
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		15 0 1 9.8E-03 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		15 0 1 9.8E-03 0 0